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INSTITUTE OF MOLECULAR GENETICS
AND GENETIC ENGINEERING
University of Belgrade

Detection of t(4;14) in multiple myeloma patients

Multiple myeloma is a progressive malignant disease of the plasma cells in bone marrow, which is characterized by extreme genetic instability of the cells. In (4;14)(p16;q32) translocation, FGFR3 i MMSET genes are deregulated, due to juxtaposition to IgH enhancers on chromosome 14. There are three possible breakpoints in MMSET gene, which result in detection of three IgH/MMSET fusion transcripts. Translocation t(4;14) is a prognostic marker of shorter survival and poor response to chemotherapy. Material used for the detection of the translocation is obtained by isolating RNA from the bone marrow, cDNA synthesis and by PCR performed using specific programs with appropriate primers and appropriate controls. For minimal residual disease monitoring we perform two-step PCR („nested“ PCR) using two sets of primers, with a sensitivity of 1:1 000 000.

It is necessary to deliver 4 to 5 ml of bone marrow using 3.8% sodium citrate as anticoagulant in vol/vol ratio 1:9. The sample is required to be delivered fresh, without freezing, during the same day. The samples are accepted every day from 10 to 13h. It is possible to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

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  • Irena Marjanović
  • dr Nataša Tošić
  • dr Sonja Pavlović

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